Y4 - Paediatric Diabetes Flashcards

1
Q

What are the types of diabetes that affect children?

A
Type 1 (most common) 
Type 2
Monogenic diabetes (MODY)
Secondary diabetes, e.g. CF related diabetes
Neonatal diabetes (transient/persistent)
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2
Q

In which groups of people is T2DM more common?

A

Afro-Caribbean or Asian ethnicities

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3
Q

What causes MODY?

A

Autosomal dominant kind of non-ketotic diabetes in childhood/young adults
6+ causal genes exist
MODY is caused by SINGLE gene defects

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4
Q

What are the key features of MODY?

A

Diagnosed <25y
Having parent with DM with DM in two or more generations
Not necessarily needing insulin

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5
Q

What are the most common types of MODY gene mutations?

A

HNF-1a (70%)
HNF-4a
HNF-1b
Glucokinase

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6
Q

HNF1-a MODY (MODY3)

A

Defect on chromosome 12 that leads to progressive decrease in insulin production
Features severe hyperglycaemia after puberty
Diabetic retinopathy and nephropathy often occur
Rx: sulphonylureas

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7
Q

HNF4-a MODY

A

Generally Rx with SU but may progress to needing insulin

Rare

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8
Q

HNF1-b (MODY5)

A

Diabetes associated with renal cysts, uterine abnormalities, gout
Usually need insulin Rx

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9
Q

Glucokinase (MODY2)

A

No Rx required
Blood sugars usually only slightly elevated
Caused by mutation on glucokinase gene (chromosome 7)

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10
Q

What is the role of glucokinase?

A

Coverts glucose into glucose-6-phosphate, which is needed to stimulate insulin secretion from beta-cells

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11
Q

How does MODY differ from T1/T2DM?

A

Caused by a single gene, as opposed to T1/T2 which is caused by polygenic and environmental causes

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12
Q

Why is molecular diagnosis in MODY so important?

A

It has consequences for diagnosis, family screening & management

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13
Q

What does testing for MODY involve?

A

Having blood taken for pancreatic antibodies
Blood/urine tested for C-peptide
Blood for genetic testing

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14
Q

What does MODY stand for?

A

Maturity onset diabetes of the young

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15
Q

What is the pathogenesis of CF related diabetes?

A

Mutation of the CFTR gene leads to two things:
1. Increased infections (and release of inflammatory markers, e.g. TNF) and increased use of steroids leads to increased insulin resistance

  1. Thick secretions block the pancreatic duct –> fatty infiltration and fibrosis of pancreatic islet cells –> decreased insulin secretion

Both of these lead to hyperglycaemia

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16
Q

Describe the onset of CFRD

A

Gradual onset

Usually around 18-25y

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17
Q

In which patients is CFRD most common?

A

Those with homozygous Phe508del mutation of CFTR

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18
Q

How are children with CF screened for CFRD?

A

Annual screen for CFRD using OGTT by age 10 in patients with CF (without CFRD)

Annual review for complications after 5y of diagnosis of CFRD

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19
Q

How is CFRD treated?

A

Insulin

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20
Q

What is involved in the aetiology of T1DM?

A

Genetic susceptibility
Autoimmunity (T cell mediated destruction of pancreatic beta-cells)
Environment - i.e. viral trigger

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21
Q

What gene in particular is implicated in T1DM?

A

Insulin-dependent diabetes mellitus 1 gene locus

part of HLA DR/DQ locus on the major histocompatibility complex

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22
Q

How likely are you to get T1 diabetes if your identical twins has it?

A

50%

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23
Q

How likely are you to get T1 diabetes if your fraternal twin as it?

A

11%

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24
Q

Where is the incidence of T1DM highest? And why might this be significant?

A

UK, Finland, Sweden etc.

All on same latitude therefore may be correlation between vitamin D and T1DM

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25
Describe the natural history of T1DM
Genetically susceptible individual is exposed to an environmental trigger There is subclinical reduction in beta-cells Symptoms appear after B-cell numbers have dropped significantly (so there are several months after trigger where individual is symptom free)
26
What is the typical presentation of T1DM?
``` Polyuria Polydipsia Weight loss Fatigue Abdominal pain (due to ketone build up) ``` DKA (around 25%)
27
What factors make presentation of T1DM with DKA more common?
``` Younger age Diagnostic error Ethnic minority Lower BMI Preceding infection Lower socio-economic status Unemployed mother ```
28
What factors make presentation of T1DM with DKA less likely?
FH of T1DM Higher parental education Higher background incidence of T1DM Presence of structured diabetes team
29
What things are involved in managing the newly diagnosed T1 diabetic?
Advice re. exercise & health eating, insulin injections, hyperglycaemia and ketones, carb counting, glucose testing, hypos, insulin jumps, DKA
30
Give examples of insulin regimens
Twice daily pre-mixed insulin Basal bolus insulin Carb counting Insulin pump
31
What does the twice daily pre-mixed insulin regimen involve?
Give starting dose of 0.5 units per kg 2/3 dose in morning pre-breakfast 1/3 dose pre-dinner Adjusted according to blood glucose levels
32
What does the basal bolus regimen involve?
Three doses of novorapid with breakfast, lunch & dinner | Long acting insulin at night before bed (e.g. Levemir)
33
What must you educate parents about carb counting?
Identifying carbs in food Calculating carbs in foods (labels, working out portion sizes etc.) Teach insulin to carb ratios How to correct if BG above target
34
What does the insulin pump have to help with calculating doses?
Automated bolus calculator
35
How does the pump give insulin?
Programmed background basal rate | Bolus doses
36
Define hypoglycaemia
BG <4
37
What are the symptoms of hypos?
``` Anxiety/irritability Shaking Sweating Tachycardia Dizziness Hunger Blurred vision Weakness/fatigue Headache ```
38
How do you Rx a mild hypo?
Fast acting sugar (fruit juice, fizzy drinks, sweets, glucose tabs) Recheck bloods in 10 minutes If still <4 repeat dose of fast acting sugar If >4 & <1h to next meal - no carbs; 1-2h to next meal take 10g carb; >2h to next meal take 20g carb
39
How do you manage a moderate hypo where the child is unable to swallow?
Administer glucose gel into buccal mucosa
40
How do you treat a severe hypo (child unconscious/fitting)?
IM glucagon | Call 999
41
What does IM glucagon do?
Mobilises hepatic glucose
42
What is the major SE of IM glucagon?
Severe vomiting
43
How would you manage a severe hypo in hospital?
IV access - give glucose 5ml/kg 10% or by rectal tube if no IV access With glucagon 0.5-1mg IM or slowly IV Expect quick return to consciousness, if not recheck glucose, if low give dexamethasone IV
44
If slow return to consciousness after severe hypo but normal BG now, what must you consider?
May have having post-ictal symptoms after a hypoglycaemic fit
45
What are the symptoms of hyperglycaemia?
``` Extreme thirst Hunger Polyuria Dry skin Blurred vision Drowsy Slow healing wounds ```
46
What does DKA result from?
Deficiency of insulin and often increased levels of counter-regulatory hormones (e.g. catecholamines, glucagon, cortisol, growth hormone) e.g. due to sepsis
47
What is the biggest concern with DKA in children (which is less common in adult DKA)?
Cerebral oedema
48
What are other fatal events that can occur in DKAs?
Hypokalaemia | Aspiration pneumonia
49
How do you prevent aspiration pneumonia in someone having a DKA?
NGT if semi-conscious to protect airway
50
What are the clinical features of DKA?
``` Listlessness Confusion Vomiting Polyuria Polydypsia Weight loss Abdominal pain Dehydration Kussmaul breathing Pear drop breath Shock Drowsiness Coma ```
51
When should you check for ketones?
If BG is >15mmol/l
52
What is kussmaul breathing?
Deep and laboured breathing in an attempt to reduce CO2 in the blood
53
What are the 6 things patients are told to look out for in DKA?
``` Persistent vomiting >4h Heavy or rapid breathing Abdominal pain Moderate/severe dehydration High BG (>17) ```
54
What is the triad of DKA required for diagnosis?
``` Hyperglycaemia (11mmol/L+) Acidosis - Mild pH <7.3 - Mod pH <7.2 - Severe pH <7.1 Ketones (in urine/blood) ```
55
How do you manage DKA?
ABC If shocked give fluid bolus 10mls/kg & reassess IV fluids (normal saline & KCl) Start insulin infusion 1-2h after fluid starts
56
What is your aim for DKA management?
Slow drop in BG of 5mmols/hour | Start insulin at 0.1u/kg/h
57
What Ix do you want to do in DKA?
``` Hourly BG 2-4hrly blood gases and electrolytes Hourly neuro obs (cerebral oedema risk) May want to do ECG Weighing Infection screen (sepsis may cause DKA) ```
58
What must children with T1DM always carry around with them?
Blood sugar meter and hypo kit
59
What is HbA1c?
Glycosylated haemoglobin Gives an idea of BG control over lifespan of a RBC (120 days) Higher HbA1c correlates with higher incidence of diabetic complications
60
When should you stop giving insulin in a patient with DKA?
Once blood ketone levels <1 & patient able to tolerate food Give s/c insulin, feed patient Stop insulin infusion 10-60m after s/c insulin injection
61
What symptoms may indicate cerebral oedema?
Headache or behaviour change
62
In which people is cerebral oedema most common?
In children | Especially those who have had a rapid fall in glucose or sodium
63
What should you do if you suspect infection in DKA?
MSU, blood culture, CXR | Start BS antibiotics